ELAC2 (elaC ribonuclease Z 2)

Gene

• Entrez ID: 60528
• Gene name: ElaC ribonuclease Z 2
• Gene symbol: ELAC2
• Synonyms (NCBI Gene): COXPD17, ELC2, HPC2
• Disease Acronyms (UniProt): COXPD17, HPC2
• Chromosome: 17
• Chromosome location: 17p12
• Summary: The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3` trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4792311	G>A,C	Pathogenic, benign	Coding sequence variant, missense variant, intron variant
rs5030739	C>T	Pathogenic, benign	Coding sequence variant, missense variant
rs119484086	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119484087	T>A,C	Pathogenic, benign	Coding sequence variant, missense variant
rs149733287	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs150347734	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371543722	G>C,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs387906327	->C	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs397515463	G>A	Pathogenic	Coding sequence variant, missense variant
rs397515464	T>A	Pathogenic	Stop gained, coding sequence variant
rs397515465	A>G	Pathogenic	Coding sequence variant, missense variant
rs397515466	G>A	Pathogenic	Coding sequence variant, missense variant
rs761385155	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs763770476	C>A	Pathogenic	Coding sequence variant, stop gained
rs1060502161	CT>A	Pathogenic, uncertain-significance	Splice acceptor variant
rs1064796732	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1308121771	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555575927	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555576642	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567773277	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT031823	hsa-miR-16-5p	Proteomics	18668040
MIRT048960	hsa-miR-92a-3p	CLASH	23622248
MIRT048834	hsa-miR-93-5p	CLASH	23622248
MIRT047119	hsa-miR-183-5p	CLASH	23622248
MIRT042299	hsa-miR-484	CLASH	23622248
MIRT039981	hsa-miR-615-3p	CLASH	23622248
MIRT036843	hsa-miR-877-3p	CLASH	23622248
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT959674	hsa-miR-3123	CLIP-seq
MIRT959675	hsa-miR-3925-5p	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2219377	hsa-miR-1237	CLIP-seq
MIRT2219378	hsa-miR-125a-5p	CLIP-seq
MIRT2219379	hsa-miR-125b	CLIP-seq
MIRT959661	hsa-miR-1264	CLIP-seq
MIRT959664	hsa-miR-1301	CLIP-seq
MIRT959665	hsa-miR-137	CLIP-seq
MIRT2219380	hsa-miR-1912	CLIP-seq
MIRT2219381	hsa-miR-22	CLIP-seq
MIRT959666	hsa-miR-25	CLIP-seq
MIRT2219382	hsa-miR-3064-3p	CLIP-seq
MIRT2219383	hsa-miR-3120-3p	CLIP-seq
MIRT2219384	hsa-miR-3130-5p	CLIP-seq
MIRT2219385	hsa-miR-3151	CLIP-seq
MIRT2219386	hsa-miR-3173-3p	CLIP-seq
MIRT959667	hsa-miR-32	CLIP-seq
MIRT2219387	hsa-miR-3614-3p	CLIP-seq
MIRT2219388	hsa-miR-3616-3p	CLIP-seq
MIRT959668	hsa-miR-363	CLIP-seq
MIRT959669	hsa-miR-367	CLIP-seq
MIRT959663	hsa-miR-3917	CLIP-seq
MIRT959676	hsa-miR-3976	CLIP-seq
MIRT2219389	hsa-miR-4303	CLIP-seq
MIRT2219390	hsa-miR-4319	CLIP-seq
MIRT2219391	hsa-miR-4436b-3p	CLIP-seq
MIRT2219392	hsa-miR-4453	CLIP-seq
MIRT2219393	hsa-miR-4482	CLIP-seq
MIRT2219394	hsa-miR-4514	CLIP-seq
MIRT2219395	hsa-miR-4538	CLIP-seq
MIRT2219396	hsa-miR-4642	CLIP-seq
MIRT2219397	hsa-miR-4645-5p	CLIP-seq
MIRT959670	hsa-miR-4660	CLIP-seq
MIRT2219398	hsa-miR-4673	CLIP-seq
MIRT2219399	hsa-miR-4692	CLIP-seq
MIRT2219400	hsa-miR-4779	CLIP-seq
MIRT2219401	hsa-miR-486-3p	CLIP-seq
MIRT959671	hsa-miR-5047	CLIP-seq
MIRT2219402	hsa-miR-634	CLIP-seq
MIRT959672	hsa-miR-92a	CLIP-seq
MIRT959673	hsa-miR-92b	CLIP-seq
MIRT2448778	hsa-miR-4778-3p	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522702	hsa-miR-18a	CLIP-seq
MIRT2522703	hsa-miR-18b	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT2522710	hsa-miR-4632	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT2522711	hsa-miR-4735-3p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq
MIRT2522701	hsa-miR-1287	CLIP-seq
MIRT2522704	hsa-miR-1909	CLIP-seq
MIRT2522705	hsa-miR-3125	CLIP-seq
MIRT2522706	hsa-miR-3135b	CLIP-seq
MIRT1984271	hsa-miR-326	CLIP-seq
MIRT1984272	hsa-miR-330-5p	CLIP-seq
MIRT2522707	hsa-miR-34b	CLIP-seq
MIRT1984273	hsa-miR-3650	CLIP-seq
MIRT1984274	hsa-miR-3664-5p	CLIP-seq
MIRT959662	hsa-miR-3684	CLIP-seq
MIRT2522708	hsa-miR-3916	CLIP-seq
MIRT2522709	hsa-miR-3944-5p	CLIP-seq
MIRT1984275	hsa-miR-4299	CLIP-seq
MIRT1984276	hsa-miR-4456	CLIP-seq
MIRT1984277	hsa-miR-4714-5p	CLIP-seq
MIRT1984278	hsa-miR-548q	CLIP-seq
MIRT1984279	hsa-miR-593	CLIP-seq
MIRT2522712	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0004549	Function	TRNA-specific ribonuclease activity	EXP	12711671, 15317868, 16361254, 18809514, 21559454, 21593607
GO:0005634	Component	Nucleus	IDA	21593607
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	21593607
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0042645	Component	Mitochondrial nucleoid	IDA	24703694
GO:0042780	Process	TRNA 3'-end processing	TAS
GO:0042781	Function	3'-tRNA processing endoribonuclease activity	IBA	21873635
GO:0046872	Function	Metal ion binding	IEA
GO:0072684	Process	Mitochondrial tRNA 3'-trailer cleavage, endonucleolytic	IBA	21873635
GO:0072684	Process	Mitochondrial tRNA 3'-trailer cleavage, endonucleolytic	IMP	21593607
GO:0090646	Process	Mitochondrial tRNA processing	TAS

Other IDs

• MIM: 605367
• HGNC: 14198
• e!Ensembl: ENSG00000006744

Protein

• UniProt ID: Q9BQ52
• Protein name: Zinc phosphodiesterase ELAC protein 2 (EC 3.1.26.11) (ElaC homolog protein 2) (Heredity prostate cancer protein 2) (Ribonuclease Z 2) (RNase Z 2) (tRNA 3 endonuclease 2) (tRNase Z 2)
• Protein function: Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA (PubMed:21593607). Associates with mitochondrial DNA complexes at the nucleo
• PDB: 8CBL, 8RR1, 8RR3, 8RR4, 8Z0P, 8Z1F, 8Z1G, 9EY0, 9EY1, 9EY2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13691	Lactamase_B_4	61 → 120	tRNase Z endonuclease	Domain
  PF12706	Lactamase_B_2	510 → 725	Beta-lactamase superfamily domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes. {ECO:0000269|PubMed:11
• Sequence:

  MWALCSLLRSAAGRTMSQGRTISQAPARRERPRKDPLRHLRTREKRGPSGCSGGPNTVYL
  QVVAAGSRDSGAALYVFSEFNRYLFNCGEGVQRLMQEHKLKVARLDNIFLTRMHWSNVGG
  LSGMILTLKETGLPKCVLSGPPQLEKYLEAIKIFSGPLKGIELAVRPHSAPEYEDETMTV
  YQIPIHSEQRRGKHQPWQSPERPLSRLSPERSSDSESNENEPHLPHGVSQRRGVRDSSLV
  VAFICKLHLKRGNFLVLKAKEMGLPVGTAAIAPIIAAVKDGKSITHEGREILAEELCTPP
  DPGAAFVVVECPDESFIQPICENATFQRYQGKADAPVALVVHMAPASVLVDSRYQQWMER
  FGPDTQHLVLNENCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCKKEGPTLSVPMVQGE
  CLLKYQLRPRREWQRDAIITCNPEEFIVEALQLPNFQQSVQEYRRSAQDGPAPAEKRSQY
  PEIIFLGTGSAIPMKIRNVSATLVNISPDTSLLLDCGEGTFGQLCRHYGDQVDRVLGTLA
  AVFVSHLHADHHTGLPSILLQRERALASLGKPLHPLLVVAPNQLKAWLQQYHNQCQEVLH
  HISMIPAKCLQEGAEISSPAVERLISSLLRTCDLEEFQTCLVRHCKHAFGCALVHTSGWK
  VVYSGDTMPCEALVRMGKDATLLIHEATLEDGLEEEAVEKTHSTTSQAISVGMRMNAEFI
  MLNHFSQRYAKVPLFSPNFSEKVGVAFDHMKVCFGDFPTMPKLIPPLKALFAGDIEEMEE
  RREKRELRQVRAALLSRELAGGLEDGEPQQKRAHTEEPQAKKVRAQ

• Sequence length: 826

Pathways

Reactome:

tRNA processing in the nucleus
tRNA processing in the mitochondrion
rRNA processing in the mitochondrion

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, Combined oxidative phosphorylation defect type 17	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	21593607, 27769300, 23849775
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863, rs1554076324, rs104894554, rs1561102614, rs267606913, rs28939714, rs104894270, rs121908571, rs121908572, rs121908573, rs28937590, rs121908575, rs121908576, rs121908577, rs121908578, rs121908579, rs121908580, rs144885874, rs587776629, rs104894630, rs121434428, rs121434429, rs1445075330, rs121908985, rs104893898, rs104893899, rs28939679, rs121912639, rs1168752295, rs104894560, rs104894555, rs104894556, rs104894557, rs387906383, rs104894705, rs121434479, rs1568985256, rs9809219, rs137852767, rs1061517, rs137852768, rs28384199, rs267606890, rs267606888, rs104894884, rs104894885, rs121913659, rs768050261, rs121913660, rs121913661, rs397515383, rs199422224, rs199592341, rs387906872, rs387906873, rs387906929, rs387906956, rs368949613, rs115532916, rs377022708, rs1586636643, rs387907070, rs387907087, rs747166010, rs387907094, rs587776904, rs387907139, rs387907199, rs397514617, rs397514618, rs587776949, rs374661051, rs879255565, rs751631278, rs552722349, rs397515447, rs372691318, rs587777004, rs776388520, rs587777041, rs587777042, rs398124308, rs794726691, rs794726692, rs587777220, rs752513525, rs587777410, rs587777433, rs142441643, rs587777784, rs587777785, rs587777787, rs606231426, rs786205436, rs765093638, rs796052056, rs201430951, rs370009373, rs377025174, rs747956412, rs757982865, rs768720209, rs757486575, rs750831299, rs863224123, rs576780935, rs863224844, rs753711253, rs149753643, rs150283105, rs869025602, rs869025603, rs869025604, rs869025605, rs531254130, rs761389904, rs876658477, rs886037835, rs141542003, rs746165168, rs878854628, rs142609245, rs573006534, rs886037857, rs150613320, rs766454175, rs752670374, rs768768823, rs749196764, rs1057516255, rs1057519073, rs1057519414, rs1057519415, rs757043077, rs768273248, rs1057519084, rs1057519085, rs1057519086, rs199683937, rs776838028, rs367956888, rs1057521059, rs199754807, rs777501387, rs150966634, rs770131276, rs1555834773, rs1085307492, rs1131691065, rs781525096, rs370411488, rs1135402749, rs151279101, rs1555338209, rs1555695342, rs1555530551, rs1555703272, rs749110767, rs1348957889, rs867410737, rs1569463838, rs758833609, rs750830935, rs1023075742, rs1554599411, rs1555745989, rs376281345, rs772294726, rs1554076306, rs1554076309, rs536758576, rs765915512, rs1555066709, rs567437692, rs1239013578, rs1554843251, rs1554843434, rs781099275, rs763006208, rs747359752, rs3210083, rs1568344751, rs1242465339, rs1568346416, rs1485032272, rs750971390, rs767543623, rs1597176845, rs138275059, rs1171276645, rs1318084629, rs1598367619, rs1598368033, rs745332456, rs778516878, rs1603223730, rs146599698, rs1321888585, rs1579936916, rs1411237396, rs1591111808, rs1592704794, rs1600305570, rs1411381518, rs1426201422, rs759254294, rs1906247824, rs770749420, rs766026673, rs1475753965, rs1970827483	27769300
Prostate cancer	Malignant neoplasm of prostate, Prostate cancer, familial, Familial prostate cancer	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	16114055, 28031937, 23141781
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 2	rs387906327, rs193929331, rs74315365, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	10986046, 11175785, 15489334, 11522646, 12783937, 12515253, 11507049, 12522685, 12711671, 18987736

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Mitochondrial Diseases	mitochondrial disease			GenCC
Schizophrenia	Schizophrenia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	31045291
Cap Myopathy	Associate	10986046
Carcinogenesis	Associate	31045291
Carcinoma Hepatocellular	Associate	29209123
Cardiomyopathy Hypertrophic	Associate	23849775, 27769300, 31045291
Head and Neck Neoplasms	Associate	34635145
Heart Diseases	Associate	27769300
Hemorrhage	Associate	37889747
Intellectual Disability	Associate	27769300
Mitochondrial complex I deficiency	Associate	23849775, 27769300
Mitochondrial Diseases	Associate	23849775, 27769300, 31045291
Mitochondrial Encephalomyopathies	Associate	27769300
Personality Disorders	Associate	26251261
Prostate cancer familial	Associate	11254448, 15714208, 18767027, 32592348
Prostate Cancer Hereditary 7	Associate	18375959
Prostatic Hyperplasia	Associate	21627373
Prostatic Neoplasms	Associate	10986046, 11254449, 12373607, 15892892, 18375959, 18767027, 20086112, 26251261, 26501111, 31045291, 32592348
Prostatic Neoplasms	Inhibit	20086112
Thrombocytopenia	Associate	37889747